RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Birc2
baculoviral IAP repeat-containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
G
Birc3
baculoviral IAP repeat-containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Akt1
AKT serine/threonine kinase 1
severity
ISO
associated with Papillomavirus Infections
RGD
PMID:22685591
RGD:38676500
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
G
Mmp13
matrix metallopeptidase 13
ISO
RGD
PMID:10027405
RGD:2293612
NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239
G
Nos3
nitric oxide synthase 3
disease_progression
ISO
DNA:repeat:intron
RGD
PMID:15196865
RGD:2292078
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DQB1*03032,DQB1*5(human)
RGD
PMID:12543794
RGD:2314696
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
G
RT1-CE15
RT1 class I, locus CE15
susceptibility
ISO
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-A2
RGD
PMID:12543794
RGD:2314696
NCBI chr20:3,269,135...3,283,819
Ensembl chr20:3,264,172...3,279,563 Ensembl chr20:3,264,172...3,279,563
G
RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
associated with Papillomavirus Infections;DNA:polymorphism: :HLA-A2
RGD
PMID:12543794
RGD:2314696
NCBI chr20:3,261,656...3,265,548
Ensembl chr20:3,257,123...3,279,563
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DRB1*11,DRB1*01,DRB1*13(human)
RGD
PMID:12543794
RGD:2314696
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cdc25a
cell division cycle 25A
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701
G
Cdc25b
cell division cycle 25B
disease_progression
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:118,407,128...118,417,272
G
Cdc25c
cell division cycle 25C
disease_progression
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr18:26,608,483...26,630,292
Ensembl chr18:26,335,834...26,356,185
G
Sfn
stratifin
ISO
DNA, mRNA:hypermethylation, decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr 5:151,110,582...151,111,854
Ensembl chr 5:145,826,201...145,831,314
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17300232
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Esr1
estrogen receptor 1
ISO
RGD
PMID:18076706
RGD:2293866
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
G
Esr2
estrogen receptor 2
ISO
RGD
PMID:18076706
RGD:2293866
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:94,809,547...94,908,919
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17300232
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
protein:increased expression:vulva associated with Papillomavirus Infections;protein:increased expression:vulva
RGD
PMID:16998595 PMID:18192968
RGD:2289682 , RGD:2289673
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
G
Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
associated with Papillomavirus Infections;protein:increased expression:vulva
RGD
PMID:18192968 PMID:16998595
RGD:2289673 , RGD:2289682
G
Chek2
checkpoint kinase 2
ISO
DNA:polymorphism:cds:252A>G
RGD
PMID:11875739
RGD:2298483
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
G
Fhit
fragile histidine triad diadenosine triphosphatase
disease_progression
ISO
protein:decreased expression:vulva, squamous epithelial cell
RGD
PMID:16608079
RGD:2301231
NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340
G
Mlh1
mutL homolog 1
ISO
protein:increased expression:vulva
RGD
PMID:15870899
RGD:2293514
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
G
Msh2
mutS homolog 2
ISO
protein:increased expression:vulva
RGD
PMID:15870899
RGD:2293514
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
G
Tp53
tumor protein p53
ISO IEP
protein:increased expression:vulva
RGD
PMID:16033093 PMID:30514679
RGD:2290537 , RGD:14995938
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Tp73
tumor protein p73
ISO
mRNA, protein:splice variant, increased expression:vulva
RGD
PMID:11720444
RGD:2290590
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:9015038
RGD:7394738
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:vagina
RGD
PMID:9015038
RGD:7394738
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:67,430,578...67,442,730
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:110,999,948...111,022,795
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 1:237,429,873...237,465,567
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